Van der Woude syndrome

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Van der Woude syndrome

ORPHA:888Malformation syndrome

Also called Cleft lip/palate with mucous cysts of lower lip · Lip-pit syndrome · VWS

What it is

Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate.

Key facts

Prevalence
1-9 / 100 000 (Europe)
Age of onset
Antenatal, Neonatal
Inheritance
Autosomal dominant, Not applicable
Classified as
Malformation syndrome

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Genes

GRHL3Disease-causing germline mutation(s)
IRF6Disease-causing germline mutation(s)

ICD-10 codes

Q38.0filed under a broader ICD-10 category — shared with 2 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Cross-references

GARD 8414MESH C536528MONDO 0019508OMIM 119300OMIM 604547OMIM 606713UMLS C0175697

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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